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Packagehl7.fhir.us.uscdi-scd
Resource TypeValueSet
IdValueSet-scd-genotype-vs.json
FHIR VersionR4
Sourcehttps://build.fhir.org/ig/hlnconsulting/uscdi-scd-ig/ValueSet-scd-genotype-vs.html
URLhttp://hl7.org/fhir/us/uscdi-scd/ValueSet/scd-genotype-vs
Version0.1.0
Statusactive
Date2026-09-11T00:10:30+00:00
NameSCDGenotypeVS
TitleSCD Genotype Value Set
Realmus
Authorityhl7
DescriptionValue set of codes representing confirmed Sickle Cell Disease genotypes for use with the SCDGenotypeExtension on the patient's primary SCD Condition resource.

Resources that use this resource

StructureDefinition
hl7.fhir.us.uscdi-scd#currentscd-genotypeSCD Genotype

Resources that this resource uses

CodeSystem
hl7.fhir.uv.xver-r4.r4b#0.1.0sctSNOMED CT (all versions)

Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: ValueSet scd-genotype-vs

  • Include these codes as defined in http://snomed.info/sct version Not Stated (use latest from terminology server)
    CodeDisplay
    127040003Sickle cell-hemoglobin SS disease (disorder)
    416180004Sickle cell-hemoglobin C disease (disorder)
    417571000Sickle cell-beta-zero-thalassemia (disorder)
    417425009Sickle cell-beta-plus-thalassemia (disorder)
    417748003Sickle cell-hemoglobin D disease (disorder)
    417279003Sickle cell-hemoglobin E disease (disorder)
    444751005Hemoglobin S-O Arab disease (disorder)
    35434009Sickle cell disorder (disorder)

Source1

{
  "resourceType": "ValueSet",
  "id": "scd-genotype-vs",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "url": "http://hl7.org/fhir/us/uscdi-scd/ValueSet/scd-genotype-vs",
  "version": "0.1.0",
  "name": "SCDGenotypeVS",
  "title": "SCD Genotype Value Set",
  "status": "active",
  "experimental": false,
  "date": "2026-09-11T00:10:30+00:00",
  "publisher": "HL7 International / Public Health",
  "contact": [
    {
      "name": "HL7 International / Public Health",
      "telecom": [
        {
          "system": "url",
          "value": "https://www.hl7.org/Special/committees/pher"
        },
        {
          "system": "email",
          "value": "pher@lists.HL7.org"
        }
      ]
    },
    {
      "name": "HL7 Public Health Work Group",
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/pher"
        },
        {
          "system": "email",
          "value": "pher@lists.HL7.org"
        }
      ]
    }
  ],
  "description": "Value set of codes representing confirmed Sickle Cell Disease genotypes\nfor use with the SCDGenotypeExtension on the patient's primary SCD\nCondition resource.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "US",
          "display": "United States of America"
        }
      ]
    }
  ],
  "compose": {
    "include": [
      {
        "system": "http://snomed.info/sct",
        "concept": [
          {
            "code": "127040003",
            "display": "Sickle cell-hemoglobin SS disease (disorder)"
          },
          {
            "code": "416180004",
            "display": "Sickle cell-hemoglobin C disease (disorder)"
          },
          {
            "code": "417571000",
            "display": "Sickle cell-beta-zero-thalassemia (disorder)"
          },
          {
            "code": "417425009",
            "display": "Sickle cell-beta-plus-thalassemia (disorder)"
          },
          {
            "code": "417748003",
            "display": "Sickle cell-hemoglobin D disease (disorder)"
          },
          {
            "code": "417279003",
            "display": "Sickle cell-hemoglobin E disease (disorder)"
          },
          {
            "code": "444751005",
            "display": "Hemoglobin S-O Arab disease (disorder)"
          },
          {
            "code": "35434009",
            "display": "Sickle cell disorder (disorder)"
          }
        ]
      }
    ]
  }
}